AIG1 — 32 ClinVar variants
All ClinVar germline AIG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
32 Uncertain significance
Full AIG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AIG1 p.Arg68Gln Uncertain significance Single submitter
- AIG1 p.Glu144Lys Uncertain significance Single submitter
- AIG1 p.Glu76Val Uncertain significance Single submitter
- AIG1 p.Gly194Glu Uncertain significance Single submitter
- AIG1 p.His149Arg Uncertain significance Single submitter
- AIG1 p.His32Tyr Uncertain significance Single submitter
- AIG1 p.Ile13Val Uncertain significance Single submitter
- AIG1 p.Ile170Met Uncertain significance Single submitter
- AIG1 p.Ile191Thr Uncertain significance Single submitter
- AIG1 p.Leu3Phe Uncertain significance Single submitter
- AIG1 p.Leu42Gln Uncertain significance Single submitter
- AIG1 p.Leu93Val Uncertain significance Single submitter
- AIG1 p.Lys234Gln Uncertain significance Single submitter
- AIG1 p.Met182Thr Uncertain significance Single submitter
- AIG1 p.Phe54Leu Uncertain significance Single submitter
- AIG1 p.Pro118Leu Uncertain significance Single submitter
- AIG1 p.Pro186Leu Uncertain significance Single submitter
- AIG1 p.Ser148Leu Uncertain significance Single submitter
- AIG1 p.Ser154Gly Uncertain significance Single submitter
- AIG1 p.Ser70Arg Uncertain significance Single submitter
- AIG1 p.Thr204Ala Uncertain significance Single submitter
- AIG1 p.Tyr117His Uncertain significance Single submitter
- AIG1 p.Val167Ile Uncertain significance Single submitter
- AIG1 p.Val179Ile Uncertain significance Single submitter
- AIG1 p.Val99Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All AIG1 variants
Uncertain significance 32
- p.Ala26Asp Single submitter ⚠
- p.Arg10Gln Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Gln7Lys Single submitter ⚠
- p.Glu144Lys Single submitter ⚠
- p.Glu76Val Single submitter ⚠
- p.Gly194Glu Single submitter ⚠
- p.His149Arg Single submitter ⚠
- p.His32Tyr Single submitter ⚠
- p.Ile13Val Single submitter ⚠
- p.Ile170Met Single submitter ⚠
- p.Ile191Thr Single submitter ⚠
- p.Leu3Phe Single submitter ⚠
- p.Leu42Gln Single submitter ⚠
- p.Leu93Val Single submitter ⚠
- p.Lys234Gln Single submitter ⚠
- p.Met182Thr Single submitter ⚠
- p.Phe54Leu Single submitter ⚠
- p.Pro118Leu Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Ser148Leu Single submitter ⚠
- p.Ser154Arg Single submitter
- p.Ser154Gly Single submitter ⚠
- p.Ser154Ile Single submitter
- p.Ser70Arg Single submitter ⚠
- p.Thr204Ala Single submitter ⚠
- p.Thr34Ile Single submitter ⚠
- p.Tyr117His Single submitter ⚠
- p.Val167Ile Single submitter ⚠
- p.Val179Ile Single submitter ⚠
- p.Val184Ala Single submitter ⚠
- p.Val99Ile Single submitter ⚠